Familial chylomicronemia in a nine months old infant.
Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial chylomicronemia in a 9-month-old infant, who was diagnosed after his plasma was incidentally found to be milky. Lipid profile showed familial chylomicronemia (Type 1 Hyperlipidemia). The infant was started on a low fat diet and advised a regular follow-up.
Lone
Saira Waqar
SW
Department of Pediatrics, The Aga Khan University Hospital, Karachi.
Imdad
Aamer
A
Billoo
Abdul Gaffar
AG
D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000175:diagnosis* / Q000628:therapy; D007223:Infant; D008297:Male